|
Gene id |
6550 |
| Gene Summary KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
SLC9A3 Gene UCSC Ensembl |
|
Aliases |
DIAR8, NHE-3, NHE3 |
|
Gene name |
solute carrier family 9 member A3 |
|
Alternate names |
sodium/hydrogen exchanger 3, Na(+)/H(+) exchanger 3, solute carrier family 9 (sodium/hydrogen exchanger), solute carrier family 9 (sodium/hydrogen exchanger), member 3, solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3, |
|
Gene location |
5p15.33 (524448: 470455) Exons: 17 NC_000010.11
|
|
Gene summary(Entrez) |
The protein encoded by this gene is an epithelial brush border Na/H exchanger that uses an inward sodium ion gradient to expel acids from the cell. Defects in this gene are a cause of congenital secretory sodium diarrhea. Pseudogenes of this gene exist on
|
|
OMIM |
182307 |
|
|
|
|
| Associated diseases |
References |
| Hypertension | GAD: 15201541 |
| Hyperparathyroidism | GAD: 20424473 |
| Ulcerative colitis | GAD: 20228799 |
| Preeclampsia | GAD: 20691413 |
| Obstructive azoospermia | MIK: 28384194 |
| Role in acrosomal formation during spermiogenesis | MIK: 29286340 |
| Congenital bilateral absence of the vas deferens (CBAVD) | MIK: 28384194 |
| Acrosomal defects | MIK: 29286340 |
| Male factor infertility | MIK: 29286340 |
| Congenital bilateral absence of the vas deferens (CBAVD) | MIK: 30956978 |
| Cryptorchidism | MIK: 28606200 |
| Obstructive azoospermia | MIK: 28384194 |
| Congenital bilateral absence of the vas deferens (CBAVD) | MIK: 28384194 |
| Male infertility | MIK: 28384194 |
| Spermatogenic defects | MIK: 29286340 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 29286340 |
Role in ac
rosomal fo
rmation du
ring sperm
iogenesis,
Acrosomal
defects,
Male infet
ility
|
|
|
|
Male infertility |
|
Show abstract |
| 28384194 |
Obstructiv
e azoosper
mia, CBAVD
, Male inf
ertility
|
|
Taiwane
se
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
| 30956978 |
Congenital
bilateral
absence o
f the vas
deferens (
CBAVD)
|
|
|
|
Male infertility |
|
Show abstract |
|